Skip to main content Accessibility help
×
Hostname: page-component-7479d7b7d-k7p5g Total loading time: 0 Render date: 2024-07-11T22:09:44.887Z Has data issue: false hasContentIssue false

Chapter 5.1 - Genetic Collagen Disorders

from 5 - Hereditary and Genetic Causes of Stroke

Published online by Cambridge University Press:  06 October 2022

Anita Arsovska
Affiliation:
University of Ss Cyril and Methodius
Derya Uluduz
Affiliation:
Istanbul Üniversitesi
Get access

Summary

Vascular Ehlers-Danlos syndrome (vEDS) is a genetic disease that has an autosomal dominant pattern of inheritance and is caused by mutations in the COL3A1 gene, resulting in type III collagen synthesis defect, making blood vessels and organs particularly fragile and vulnerable. Vascular complications typically include arterial ruptures but also arterial dissections, which can cause ischaemia in the territory involved; visceral complications are also frequently reported. Patients may show a characteristic facial appearance; joint’s hypermobility and translucent skin with easy bruising are commonly found. Diagnostic criteria have been proposed to improve the diagnosis of this rare disorder, although the genetic confirmation is still required. There is no established treatment, so primary and secondary prevention play a key role in the management of these patients. For example, when a cerebrovascular event, such as a stroke, occurs as a result of a spontaneous dissection of a blood vessel, long-lasting antithrombotic therapy, which is the standard secondary prevention in stroke, is actually contraindicated, considering the high risk of bleeding associated with this disease

Type
Chapter
Information
Rare Causes of Stroke
A Handbook
, pp. 199 - 205
Publisher: Cambridge University Press
Print publication year: 2022

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Pope, FM, Nicholls, AC, Jones, PM, et al. EDS IV (acrogeria): New autosomal dominant and recessive types. J R Soc Med. 1980;73(3): 180186.Google Scholar
Pepin, M, Schwarze, U, Superti-Furga, A, Byers, PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med. 2000;342(10): 673.Google Scholar
Malfait, F, Francomano, C, Byers, P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1): 826.CrossRefGoogle ScholarPubMed
Byers, PH, Belmont, J, Black, J, et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. 2017;175(1): 4047.CrossRefGoogle ScholarPubMed
Bhatt, N, Malik, AM, Chaturvedi, S. Stroke in young adults Five new things. Neurol Clin Pract. 2018;8(6): 501506.CrossRefGoogle ScholarPubMed
Bersano, A, Markus, HS, Quaglini, S, et al. Clinical pregenetic screening for stroke monogenic diseases: Results from Lombardia GENS Registry. Stroke. 2016;47(7): 17021709.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×